Antiapoptotic Gene Genotype and Allele Variations and the Risk of Lymphoma

Abstract

Background: The findings of earlier investigations of antiapoptotic gene genotypes and allele variants on lymphoma risk are ambiguous. This study aimed to examine the relationship between the mutation in the antiapoptotic genes and lymphoma risk among Saudi patients. Methods: This case–control study included 205 patients, 100 of whom had lymphoma (cases) and 105 who were healthy volunteers (controls). We used tetra amplification refractory mutation polymerase chain reaction (PCR) to identify antiapoptotic genes such as B-cell lymphoma-2 (BCL2-938 C > A), MCL1-rs9803935 T > G, and survivin (BIRC5-rs17882312 G > C and BIRC5-rs9904341 G > C). Allelic-specific PCR was used to identify alleles such as BIRC5-C, MCL1-G, and BIRC5-G. Results: The dominant inheritance model among cases showed that mutations in all four antiapoptotic genes were more likely to be associated with the risk of lymphoma by the odds of 2.0-, 1.98-, 3.90-, and 3.29-fold, respectively, compared to controls. Apart from the BCL-2-A allele, all three specified alleles were more likely to be associated with lymphoma by the odds of 2.04-, 1.65-, and 2.11-fold, respectively. Conclusion: Unlike healthy individuals, lymphoma patients are more likely to have antiapoptotic gene genotypes and allele variants, apart from BCL-2-A alterations. In the future, these findings could be used to classify and identify patients at risk of lymphoma.

A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives

“…In the US, patients with various mutation types have significantly variable starting ages for ESRD. The following are the median (and 95% CIs) times from birth to end-stage renal disease: missense, 37 years (34)(35)(36)(37)(38)(39)(40); splice site, 28 years (26)(27)(28)(29)(30)(31)(32); truncating, 25 years (21-31); major deletion, 22 years (16-23); and small deletion, 22 years (19-27); P 0.0001 [13].…”

“…Recently, the 100,000 Genomes Project's 39,421 participants were tested for the bioinformatically predicted harmful missense mutations and 5.6% of them had a history of hematuria [36]. In Saudi Arabia, due to the high consanguinity rate (58%), several recessive mutations were reported [37][38][39][40].…”